Acatalasemia

Acatalasemia, also known as acatalasia or Takahara disease, is a rare inherited metabolic disorder caused by a marked deficiency or absence of the enzyme catalase, which is responsible for breaking down hydrogen peroxide into water and oxygen. The condition is caused by pathogenic variants in the CAT gene located on chromosome 11p13. Without sufficient catalase activity, hydrogen peroxide can accumulate in tissues, potentially leading to oxidative damage. The disease was first described by the Japanese otolaryngologist Shigeo Takahara in 1946. The clinical presentation of acatalasemia is highly variable. Many affected individuals remain completely asymptomatic throughout their lives and are identified only through biochemical testing. When symptoms do occur, they most commonly affect the oral cavity, including recurrent oral ulcers, gangrene of the gums (oral gangrene), and progressive periodontal disease, which in severe cases can lead to tooth loss and alveolar bone destruction. These oral manifestations are thought to result from the inability to detoxify hydrogen peroxide produced by oral bacteria. Some studies have also suggested that individuals with acatalasemia may have an increased susceptibility to diabetes mellitus and atherosclerosis, though these associations require further investigation. There is no specific curative treatment for acatalasemia. Management is primarily supportive and focuses on maintaining good oral hygiene to prevent periodontal complications. Regular dental care, antiseptic mouth rinses, and prompt treatment of oral infections are recommended. In cases of severe oral gangrene, surgical debridement may be necessary. Genetic counseling is recommended for affected families. The prognosis is generally favorable, as most individuals with acatalasemia lead normal lives with appropriate preventive care.

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